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Genetic Variants in Nicotinamide Adenine Dinucleotide (NAD) Synthesis Pathway

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT03799705
Recruitment Status : Recruiting
First Posted : January 10, 2019
Last Update Posted : August 14, 2019
Sponsor:
Information provided by (Responsible Party):
Eduardo N. Chini, Mayo Clinic

Tracking Information
First Submitted Date August 29, 2018
First Posted Date January 10, 2019
Last Update Posted Date August 14, 2019
Actual Study Start Date January 1, 2019
Estimated Primary Completion Date May 30, 2020   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: January 9, 2019)
  • Genetic variants [ Time Frame: 2 years ]
    Identification of genetic variants which may be associated with VACTERL association or other congenital malformations.
  • Targeted metabolomics [ Time Frame: 2 years ]
    Identification of changes in metabolic pathways which may provide functional insight into the presence of genetic variants in patients with VACTERL association
Original Primary Outcome Measures Same as current
Change History
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Genetic Variants in Nicotinamide Adenine Dinucleotide (NAD) Synthesis Pathway
Official Title Identifying Genetic Variants in Nicotinamide Adenine Dinucleotide (NAD) Synthesis Pathway in Patients With Congenital Malformations
Brief Summary Researchers are trying to identify versions of genes as well as factors in subjects blood associated with certain types of congenital malformations(CMs). This study will help the researchers to better understand family traits that contribute to CMs.
Detailed Description Not Provided
Study Type Observational
Study Design Observational Model: Family-Based
Time Perspective: Other
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples With DNA
Description:
DNA and metabolites will be extracted from blood and urine for genetic variant and targeted metabolomics analyses.
Sampling Method Non-Probability Sample
Study Population A US population consisting of adults with VACTERL, adults and offspring with a family history of VACTERL, and women with a history of miscarriage and/or congenital malformations.
Condition
  • Vacterl Association
  • Congenital Malformation
Intervention Not Provided
Study Groups/Cohorts History of VACTERL or congenital malformations
1) Adults with VACTERL association; 2) adults with a history of congenital malformations resembling VACTERL association; 3) gravid and non-gravid women with a history of recurrent miscarriage, their surviving offspring, and the biological father of offspring; 4) newly diagnosed VACTERL patients identified by healthcare providers.
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: January 9, 2019)
840
Original Estimated Enrollment Same as current
Estimated Study Completion Date January 1, 2021
Estimated Primary Completion Date May 30, 2020   (Final data collection date for primary outcome measure)
Eligibility Criteria

Inclusion Criteria:

  1. Adults with confirmed or putative diagnosis of VACTERL association;
  2. Families (mother, father, biological offspring) with a history of VACTERL-associated malformations
  3. Gravid or non-gravid women with a history of miscarriage and/or offspring with non-VACTERL-associated malformations
  4. Willingness to abstain from red meat, meat products, chicken, peanuts, or brewer's yeast (including beer) at least 24 hours prior to blood and urine collection

Exclusion Criteria:

1) Parents of non-biological children 3) Children with congenital malformations associated with an identifiable environmental or lifestyle exposure 4) Children with congenital malformations associated with confirmed chromosomal disorders 5) Failure to abstain from red meat, meat products, chicken, peanuts, or brewer's yeast (including beer) at least 24 hours prior to blood and urine collection.

Sex/Gender
Sexes Eligible for Study: All
Ages Child, Adult, Older Adult
Accepts Healthy Volunteers No
Contacts
Contact: Heather LaBrec, BA 507-293-3446 LaBrec.Heather@mayo.edu
Contact: Kelly A Hogan, Ph.D. 507-284-0746 hogan.kelly@mayo.edu
Listed Location Countries United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT03799705
Other Study ID Numbers 18-001135
Has Data Monitoring Committee Not Provided
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement
Plan to Share IPD: No
Responsible Party Eduardo N. Chini, Mayo Clinic
Study Sponsor Mayo Clinic
Collaborators Not Provided
Investigators
Principal Investigator: Eduardo Chini, MD PhD Mayo Clinic
PRS Account Mayo Clinic
Verification Date August 2019